A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4085521



Internal ID19979638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126592561..126593436hg38UCSC Ensembl
chr3:126311404..126312279hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1695n166
Supporting Variantsnssv15885604
Samples
Known GenesTXNRD3NB
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4085521
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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